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Article

Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest.

American journal of human genetics - 1 Sept 2016

Xu Yao, Shi Yingli, Fu Jing, Yu Min, Feng Ruizhi, Sang Qing, Liang Bo, Chen Biaobang, Qu Ronggui, Li Bin, Yan Zheng, Mao Xiaoyan, Kuang Yanping, Jin Li, He Lin, Sun Xiaoxi, Wang Lei

Abstract excerpt

Early embryonic arrest is one of the major causes of female infertility. However, because of difficulties in phenotypic evaluation, genetic determinants of human early embryonic arrest are largely unknown. With the development of assisted reproductive technology, the phenotype of early human embryonic arrest can now be carefully evaluated. Here, we describe a consanguineous family with a recessive inheritance...

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Share to Infertility, Female
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27545678
DOI: 10.1016/j.ajhg.2016.06.024
PMCID: PMC5010645

Genes

PADI6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest.PMID 27545678Read ↗

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A complex heterozygous mutation in PADI6 causes early embryo arrest: A case reportSemantic proximity Read ↗

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Two novel mutations in PADI6 and TLE6 genes cause female infertility due to arrest in embryonic development.Semantic proximity Read ↗

Novel biallelic mutations in PADI6 in patients with early embryonic arrest.Semantic proximity Read ↗

Novel variants in MEI1 cause female infertility characterized by early embryonic arrest and implantation failure.Semantic proximity Read ↗

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The human knockout phenotype of <i><scp>PADI6</scp></i> is female sterility caused by cleavage failure of their fertilized eggsSemantic proximity Read ↗

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